Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia

Abstract

Newborn screening for congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) is essential to reduce the risk of morbidity and mortality from delayed identification and treatment of these conditions. Infants with untreated CH are at risk for intellectual disability, psychomotor dysfunction, and impaired growth, and those with untreated CAH are at risk for adrenal crisis as well as significant virilization of female infants. As multiple perinatal factors such as prematurity, clinical instability, and maternal health conditions and medications can impact newborn screening results, early consultation of pediatric endocrinology is recommended to ensure test interpretation incorporates perinatal considerations.

Keywords: Adrenal; Congenital adrenal hyperplasia; Hypothyroidism; Newborn; Screening; Thyroid.